Product Details

SNP ID

rs115645622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:121667581 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATTCATTCACTTCCTGTCTGGTG[C/T]TGCATAGCTGCTGCTGAGCTTCAGA

Phenotype

MIM: 602500 MIM: 601306

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GOLGB1 PubMed Links

Gene Details

Gene

GOLGB1

Gene Name

golgin B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256486.1	9939	Missense Mutation	AAC,AGC	N3155S	NP_001243415.1
NM_001256487.1	9939	Missense Mutation	AAC,AGC	N3111S	NP_001243416.1
NM_001256488.1	9939	Missense Mutation	AAC,AGC	N3070S	NP_001243417.1
NM_004487.4	9939	Missense Mutation	AAC,AGC	N3145S	NP_004478.3
XM_005247371.4	9939	Missense Mutation	AAC,AGC	N3155S	XP_005247428.1
XM_005247372.4	9939	Missense Mutation	AAC,AGC	N3116S	XP_005247429.1
XM_005247373.1	9939	Missense Mutation	AAC,AGC	N3114S	XP_005247430.1
XM_006713587.1	9939	Missense Mutation	AAC,AGC	N3150S	XP_006713650.1
XM_006713588.1	9939	Missense Mutation	AAC,AGC	N3150S	XP_006713651.1
XM_006713589.1	9939	Missense Mutation	AAC,AGC	N3149S	XP_006713652.1
XM_006713590.1	9939	Missense Mutation	AAC,AGC	N3109S	XP_006713653.1
XM_006713591.1	9939	Missense Mutation	AAC,AGC	N3075S	XP_006713654.1
XM_011512699.2	9939	Missense Mutation	AAC,AGC	N3155S	XP_011511001.1
XM_017006189.1	9939	Missense Mutation	AAC,AGC	N3150S	XP_016861678.1
XM_017006190.1	9939	Missense Mutation	AAC,AGC	N3149S	XP_016861679.1
XM_017006191.1	9939	Missense Mutation	AAC,AGC	N3114S	XP_016861680.1
XM_017006192.1	9939	Missense Mutation	AAC,AGC	N3111S	XP_016861681.1
XM_017006193.1	9939	Missense Mutation	AAC,AGC	N3110S	XP_016861682.1
XM_017006194.1	9939	Missense Mutation	AAC,AGC	N3075S	XP_016861683.1
XM_017006195.1	9939	Missense Mutation	AAC,AGC	N2902S	XP_016861684.1

Gene

HCLS1

Gene Name

hematopoietic cell-specific Lyn substrate 1

There are no transcripts associated with this gene.

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